INTRODUCTION

Macrophage Activation Syndrome (MAS) is a rare but life threatening pro-inflammatory complication of multiple autoimmune diseases leading to cytokine storm. We report a case of MAS as a presenting manifestation of Systemic Lupus Erythematosus.

A 32-year-old female, newly diagnosed with Systemic Lupus Erythematosus (SLE), presents with a 3-month history of fever and joint pains, which began a few days after receiving her first dose of a viral vector COVID-19 vaccine. She later developed facial edema, and her fever became persistent and unremitting. Upon presentation, she was initially hypotensive, tachycardic, with distended neck veins, with periorbital edema and muffled heart sounds. Initial work-up revealed pericardial effusion, anemia, thrombocytopenia, elevated creatinine, hypoalbuminemia, hematuria, and pyuria. She was intubated, started on inotrope, and underwent pericardiocentesis. Patient was classified as SLE based on Systemic Lupus International Collaborating Clinics Classification (SLICC) Criteria despite negative antinuclear antibody (ANA). Nevertheless, she was started on IV steroids and hydroxychloroquine. She was eventually extubated after significant clinical improvement. Further work-up for MAS was however done due to persistent febrile episodes. Hyperferritinemia, hypertriglyceridemia, hypercholesterolemia, pancytopenia, transaminitis, and splenomegaly on imaging were noted. She was then started on methylprednisolone pulse therapy. After treatment, marked clinical improvement, as well as resolution of transaminitis and pancytopenia were noted.

A high index of suspicion for MAS should exist in a patient with pyrexia of unknown origin with concomitant autoimmune disease. In this disease that can lead to progressive organ failure, early diagnosis and management is crucial. This case report culminates the need for diagnostic and therapeutic guidelines that will help in the early diagnosis and immediate treatment of this debilitating condition.

Langerhans Cell Histiocytosis (LCH) is a rare disorder characterized by the abnormal proliferation of histiocytes, predominantly affecting the bones and skin. However, it can also involve the bone marrow, liver, spleen, lungs, pituitary gland, central nervous system, and other organs. The disorder is named for the neoplastic cells that resemble dendritic Langerhans cells found in the skin and mucosa.

We present the case of a 2-year-old Filipino female diagnosed with recurrent LCH, highlighting the diagnostic challenges and therapeutic interventions encountered. The patient initially presented with characteristic papules and plaques indicative of LCH. Initial treatment involved multi-agent chemotherapy, which resulted in significant clinical improvement. However, following the cessation of therapy, the patient experienced recurrence of symptoms, necessitating reevaluation. A skin punch biopsy confirmed the diagnosis of LCH, reinforcing the decision to reinitiate chemotherapy. Complications arose during treatment, including febrile neutropenia, which required hospitalization and adjustments to the management plan. After completing the chemotherapy cycles, the patient demonstrated marked clinical improvement, with the resolution of systemic symptoms and a reduction in the severity of cutaneous lesions.

This case underscores the complexities in managing recurrent LCH in pediatric patients. A comprehensive diagnostic evaluation, vigilant monitoring for treatment-related complications, and prompt therapeutic interventions are critical for achieving optimal outcomes. Effective management requires a multidisciplinary approach to address the unique challenges presented, ensuring timely interventions to improve patient outcomes.

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia affecting children 2-5 years old. The clinical presentation ranges from self-resolving localized disease to fulminant, fatal disseminated disease. While the most common presentation of LCH are small, translucent crusted papules on the trunk, intertriginous areas, and scalp, it may present as crusted plaques and alopecia. A 3-year-old male presented with a 4-month history of solitary, well-defined, hyperpigmented plaque with yellow-brown crust on the left parieto-occipital area of the scalp measuring 1.5 x 1.5 cm and a solitary, well-defined, hairless patch with areas of erythema on the left parieto-occipital area measuring 5.0 x 6.0 cm. Scalp biopsy revealed diffuse collection of lymphohistiocytes interspersed with distinct kidney bean-shaped cells. CD1a is positive for cells of interest. Skeletal survey revealed lytic lesions involving the skull, thoracic cage, spine, pelvis, and upper and lower extremities. The rest of the physical examination findings revealed lymphadenopathy, crackles, globular abdomen with right and left upper quadrant dullness. The patient had episodes of fever, difficulty of breathing, and abdominal pain. The patient received chemotherapy as multisystem LCH based on prednisone and vinblastine. Following 3 courses of chemotherapy, there is noted hair regrowth and sloughing off of crust.

18F-Fluorodeoxyglucose (18F-FDG) PET/CT scan is a vital imaging modality in the majority of oncologic situations. It is proven useful in staging, management and monitoring of lymphomas. Numerous subtypes of lymphomas exist; however, we present the first documented case of a 56-year-old, Filipino, male patient who is diagnosed with mantle cell lymphoma of the conjunctiva (MCL). MCL is an extremely rare type of extranodal non-Hodgkin lymphoma and has an aggressive nature with an estimated incidence of 2-4/1,000,000. This case highlights the critical role that PET/CT scans play in directing treatment decisions and monitoring the response of conjunctival MCL to therapy.
Lymphoma, Non-hodgkin ; Positron-emission Tomography

Humans ; HIV-1 ; Leukocytes, Mononuclear ; Lymphoma, Non-Hodgkin ; DNA ; HIV Infections

Objective: To summarize the therapeutic effects of Chinese Children Leukemia Group-acute lymphoblastic leukemia (CCLG-ALL) 2018 regimen in children with T cell acute lymphoblastic leukemia (T-ALL) and to find out risk indicators for prognosis. Methods: This study was a prospective multicenter cohort study involving 299 newly diagnosed T-ALL children in 21 Grade A tertiary hospitals nationwide. All patients received CCLG-ALL 2018 regimen and clinical data for treatment efficacy evaluating was collected. Variables associated with event free survival (EFS) rate, overall survival (OS) rate and cumulative recurrence rate were evaluated by Lasso regression analysis (including variables selection, model construction and hazard ratio calculating). Results: A total of 299 newly diagnosed T-ALL children were included, accounting for 9.9% (299/3 026) of all ALL patients. Among these patients, there were 224 males and 75 females, and the age of onset was 7.0 (4.7, 10.6) years. All patients received CCLG-ALL 2018 regimen treatment. After 31.1 (17.3, 43.8) months follow-up, 3-year EFS, 3-year OS and cumulative recurrence rate of them were (83.2±2.7)%, (91.3±1.8)%, and (7.9±1.7)%, respectively. Minimal residual disease (MRD) greater than 10.00% on day 15 of induction therapy was a risk factor for EFS (HR=1.89, 95%CI 1.04-3.44), OS (HR=2.82, 95%CI 1.35-5.92), and cumulative recurrence rate (HR=3.05, 95%CI 1.46-6.34). Compared with the medium-risk group, the high-risk group had higher induction failure rate (5.2% (7/134) vs. 0 (0/145), P=0.016) and lower complete remission rate (88.8% (119/134) vs.97.9% (142/145),P=0.004). Most complications happened during induction therapy (95 cases), and the most common complication was serious infection (158 cases). Conclusions: CCLG-ALL 2018 regimen shows good prognosis. MRD greater than 10.00% on day 15 of induction therapy is a strong risk factor, which can indicate the prognosis in the early stage of the disease and guide the appropriate treatment.
Male ; Female ; Humans ; Child ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/drug therapy* ; Disease-Free Survival ; Prospective Studies ; Cohort Studies ; East Asian People ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Treatment Outcome ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy* ; Prognosis ; Neoplasm, Residual

Langerhans cell histiocytosis (LCH) is a group of unexplainable abnormal proliferation and aggregation of Langerhans cell. LCH can be classified into four clinical variants: Letterer-Siwe disease, Hand-Schüller-Christian disease, eosinophilic granuloma, and congenital self-healing LCH. LCH is most prevalent in children. Lesions can be localized in a single system or multiple organs, and clinical manifestations vary depending on the affected organs. The skin and mucocutaneous tissues are the starting point of the affected tissue. This study presents a LCH case characterized by transient self-healing. This case can further provide references for the clinical diagnosis and treatment of LCH.
Child ; Humans ; Histiocytosis, Langerhans-Cell/therapy* ; Diagnosis, Differential

OBJECTIVE: To carry out combined genetic analysis on two patients suspected for Burkitt lymphoma to facilitate their diagnosis and treatment. METHODS: G banded karyotyping and interphase and metaphase fluorescence in situ hybridization (FISH) were used to detect the specific sites of chromosomes by using separate and fusion probes. RESULTS: The separate probe showed no presence of MYC gene abnormality, while fusion probe confirmed the IGH::MYC translocation in the samples. Combined with the clinical features and pathological characteristics, the two patients were finally diagnosed with Burkitt lymphoma, which was confirmed by targeted capture next generation sequencing. CONCLUSION The separate probe for the MYC gene has some shortcomings and should be used together with dual fusion probe to improve the accuracy of diagnosis.
Humans ; Burkitt Lymphoma/pathology* ; In Situ Hybridization, Fluorescence ; Genes, myc ; Translocation, Genetic ; Karyotyping

OBJECTIVES: To investigate the expression and significance of jumonji domain-containing protein 2B (JMJD2B) and hypoxia-inducible factor-1α (HIF-1α) in non-Hodgkin's lymphoma (NHL) tissues in children. METHODS: Immunohistochemistry was used to detect the expression of JMJD2B and HIF-1α in lymph node tissue specimens from 46 children with NHL (observation group) and 24 children with reactive hyperplasia (control group). The relationship between JMJD2B and HIF-1α expression with clinicopathological characteristics and prognosis in children with NHL, as well as the correlation between JMJD2B and HIF-1α expression in NHL tissues, were analyzed. RESULTS: The positive expression rates of JMJD2B (87% vs 21%) and HIF-1α (83% vs 42%) in the observation group were higher than those in the control group (P<0.05). The expression of JMJD2B and HIF-1α was correlated with serum lactate dehydrogenase levels and the risk of international prognostic index in children with NHL (P<0.05). The expression of JMJD2B was positively correlated with the HIF-1α expression in children with NHL (r_s=0.333, P=0.024). CONCLUSIONS JMJD2B and HIF-1α are upregulated in children with NHL, and they may play a synergistic role in the development of pediatric NHL. JMJD2B can serve as a novel indicator for auxiliary diagnosis, evaluation of the severity, treatment guidance, and prognosis assessment in pediatric NHL.
Humans ; Child ; Hypoxia-Inducible Factor 1, alpha Subunit ; Prognosis ; Hypoxia ; Lymphoma, Non-Hodgkin

OBJECTIVE: To detect the relative expression of IGLL1 (immunoglobulin lambda-like polypeptide 1) mRNA in bone marrow of children with T-cell acute lymphoblastic leukemia (T-ALL), and analyze its correlation with the clinical characteristics and prognosis of the patients, so as to clarify the clinical significance of IGLL1 in pediatric T-ALL patients. METHODS: A total of 56 pediatric T-ALL patients hospitalized in Children's Hospital of Soochow University from June 2012 to December 2017 and treated with CCLG-ALL 2008 regimen were selected. Transcriptome sequencing technology was used to detect the transcription level of IGLL1 gene in children with T-ALL. According to 25% of the IGLL1 transcription level (cutoff value:448), the enrolled children were divided into IGLL1 low expression group (17 cases) and IGLL1 high expression group (39 cases). Combined with clinical data, the correlation between the expression level of IGLL1 and prognosis of the patients was analyzed. RESULTS: The comparative analysis showed that the transcription level of IGLL1 was not correlated with the clinical characteristics of the patients, such as sex, age, bone marrow blast, white blood cell (WBC) count at initial diagnosis. The 5-year OS rate of patients with high IGLL1 expression was significantly higher than that of patients with low IGLL1 expression (76.9%±6.7% vs 47.1%±12.1%, P =0.018). Further comparison of relapse-free survival (RFS) rate between the two groups showed that the 5-year RFS rate of patients with high IGLL1 expression was higher than that of patients with low IGLL1 expression, but the difference between the two groups was not statistically significant (P =0.095). Multivariate COX analysis was conducted on common clinical prognostic factors (age, sex, WBC count at diagnosis, prednisone response on the 7th day, bone marrow response on the 15th day after treatment) and IGLL1 expression level, and the results showed that IGLL1 expression (P =0.012) and prednisone response (P =0.017) were independent risk factors for overall survival in pediatric T-ALL patients. CONCLUSION In pediatric T-ALL, the OS rate of children with high expression of IGLL1 gene was significantly higher than that of children with low expression of IGLL1 gene, and the expression level of IGLL1 gene was an independent factor affecting the survival of children with T-ALL, which suggests that IGLL1 is a marker of good clinical prognosis of children with T-ALL.
Child ; Humans ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Clinical Relevance ; Disease-Free Survival ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics* ; Prednisone/therapeutic use* ; Prognosis ; Recurrence ; Immunoglobulin Light Chains, Surrogate/genetics*